Study of the mitochondrial genome

Several types of samples can be studied. Tipically, LBioMiT analyses the following tissues for mtDNA: blood/lymphocytes, muscle, myocardium, liver, skin/fibroblasts.

At times, due to the characteristics of mtDNA, it can be justifiable to study more than one tissue type in the same case.

However, some tests are more specific in the tissues in which we can perform it.

The DNA/RNA can be extracted at LBioMiT (preferential) or we can perform the analysis in a DNA/RNA sample extracted previously and outside the laboratory.

The various LBioMiT assays on the mitochondrial genome are carried out within the scope of diagnosis and/or reverse translational investigation.

Patients with suspected mitochondrial disease or disease associated with mitochondrial dysfunction may benefit from studies of the mitochondrial genome (and/or mitochondrial biochemistry, also offered by LBioMiT). Additionally, relatives of these patients are referred to this type of studies for genetic counseling, among other clinical issues.

In terms of research, many other groups can be studied in this context, including humans or other animals.

Analysis of bioinformatics genomic results to evaluate what may be the pathogenic cause of disease, regarding the clinical information of the patient, and/or for research purposes.

The complete mitochondrial genome can be sequenced and analysed only in the patient/case study. However, it can be useful to perform the "Familial case study", also refered as Trio analysis. Tipically, this analysis studies the two parents and their progeny, to better clarificate the genetical findings and its pathogenecity/possibility of being disease causing.

There is always the possibility of studying only the patient/case at hand. The family/trio study is beneficial to better understand genetic findings, but it is still possible to analyze the results without them and find a possible cause of disease. If the trio is not possible, the analysis of only one parent can still benefit the understanding and analysis.

There are several cases where the study of nuclear DNA can be relevant.

[under construction]

The tests implemented at LBioMiT have a basis in methods published in peer-reviewed publications.

Complete sequencing of mtDNA, including panels and/or specific genes.

Confirmation of mutation/deletion.

Detection of rearrangements (deletions/insertions).

Quantification of copy number (depletion).

Mutation screening of LHON top-3.

• Developed by LBioMiT. Currently under revision for scientific publication.

This screening test was developed and implemented at LBioMiT.

Leber's Hereditary Optic Neuropathy (LHON) is mostly associated with 3 mtDNA mutations (m.3460G>A, m.11778G>A, m.14484T>C). This genetic test performs an important initial screening, with an answer within 24h, to patients with LHON suspicion or relatives that may be carriers.

This test is applied in DNA extracted from human blood (lymphocytes), which also gives it a lower-invasiveness.

This study is associated with depletion syndromes.

However, it is also really useful in cases in study, with suspicion of mitochondrial disease, particularly if not well elucidated, as well as in different research outputs, giving interesting insights into the bioenergetic capacity of the mitochondrial

This study is done in human lymphocytes, liver, muscle and fibroblasts. Other human tissues or animal tissues may be analyzed, upon request and planification.